Parkinson's disease and α‐synuclein expression
Identifieur interne : 000207 ( Main/Exploration ); précédent : 000206; suivant : 000208Parkinson's disease and α‐synuclein expression
Auteurs : Michael J. Devine [Royaume-Uni] ; Katrina Gwinn [États-Unis] ; Andrew Singleton [États-Unis] ; John Hardy [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-10.
English descriptors
- KwdEn :
Abstract
Genetic studies of Parkinson's disease over the last decade or more have revolutionized our understanding of this condition. α‐Synuclein was the first gene to be linked to Parkinson's disease, and is arguably the most important: the protein is the principal constituent of Lewy bodies, and variation at its locus is the major genetic risk factor for sporadic disease. Intriguingly, duplications and triplications of the locus, as well as point mutations, cause familial disease. Therefore, subtle alterations of α‐synuclein expression can manifest with a dramatic phenotype. We outline the clinical impact of α‐synuclein locus multiplications, and the implications that this has for Parkinson's disease pathogenesis. Finally, we discuss potential strategies for disease‐modifying therapies for this currently incurable disorder. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23948
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Parkinson's disease and α‐synuclein expression</title>
<author><name sortKey="Devine, Michael J" sort="Devine, Michael J" uniqKey="Devine M" first="Michael J." last="Devine">Michael J. Devine</name>
</author>
<author><name sortKey="Gwinn, Katrina" sort="Gwinn, Katrina" uniqKey="Gwinn K" first="Katrina" last="Gwinn">Katrina Gwinn</name>
</author>
<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:CEFB5E7351F8F81DE7A34F0DB69855291A450B32</idno>
<date when="2011" year="2011">2011</date>
<idno type="doi">10.1002/mds.23948</idno>
<idno type="url">https://api.istex.fr/document/CEFB5E7351F8F81DE7A34F0DB69855291A450B32/fulltext/pdf</idno>
<idno type="wicri:Area/Main/Corpus">000228</idno>
<idno type="wicri:Area/Main/Curation">000190</idno>
<idno type="wicri:Area/Main/Exploration">000207</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Parkinson's disease and α‐synuclein expression</title>
<author><name sortKey="Devine, Michael J" sort="Devine, Michael J" uniqKey="Devine M" first="Michael J." last="Devine">Michael J. Devine</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gwinn, Katrina" sort="Gwinn, Katrina" uniqKey="Gwinn K" first="Katrina" last="Gwinn">Katrina Gwinn</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Baylor College of Medicine, Houston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Institute for Aging, NIH, Bethesda, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2011-10">2011-10</date>
<biblScope unit="volume">26</biblScope>
<biblScope unit="issue">12</biblScope>
<biblScope unit="page" from="2160">2160</biblScope>
<biblScope unit="page" to="2168">2168</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">CEFB5E7351F8F81DE7A34F0DB69855291A450B32</idno>
<idno type="DOI">10.1002/mds.23948</idno>
<idno type="ArticleID">MDS23948</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkinsonism</term>
<term>genetics</term>
<term>α‐synuclein</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Genetic studies of Parkinson's disease over the last decade or more have revolutionized our understanding of this condition. α‐Synuclein was the first gene to be linked to Parkinson's disease, and is arguably the most important: the protein is the principal constituent of Lewy bodies, and variation at its locus is the major genetic risk factor for sporadic disease. Intriguingly, duplications and triplications of the locus, as well as point mutations, cause familial disease. Therefore, subtle alterations of α‐synuclein expression can manifest with a dramatic phenotype. We outline the clinical impact of α‐synuclein locus multiplications, and the implications that this has for Parkinson's disease pathogenesis. Finally, we discuss potential strategies for disease‐modifying therapies for this currently incurable disorder. © 2011 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
<li>Maryland</li>
<li>Texas</li>
</region>
<settlement><li>Londres</li>
</settlement>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Devine, Michael J" sort="Devine, Michael J" uniqKey="Devine M" first="Michael J." last="Devine">Michael J. Devine</name>
</region>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
</country>
<country name="États-Unis"><region name="Texas"><name sortKey="Gwinn, Katrina" sort="Gwinn, Katrina" uniqKey="Gwinn K" first="Katrina" last="Gwinn">Katrina Gwinn</name>
</region>
<name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000207 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000207 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= ParkinsonV1 |flux= Main |étape= Exploration |type= RBID |clé= ISTEX:CEFB5E7351F8F81DE7A34F0DB69855291A450B32 |texte= Parkinson's disease and α‐synuclein expression }}
This area was generated with Dilib version V0.6.23. |